Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(828): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCACAGCCGCCC CCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACC CCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCC ACAGCCGCCCCCACAGCCACCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACC CCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	5	0.2000	835	c.-41 others(850): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCACAGCCGCC CCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCAC CCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAG CCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCC CACAGCCGCCCCCACAGCCACCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCG CCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KLHDC4_chr16_87702812_87770986	87738864	T T	TCATCCAT others(828): Show TCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGTATCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCC ACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCCA TCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCACCTCATC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0146 a0011c0012t0001g0146	1	374	0.0027	835	c.507 others(852): Show c.507-8221_507-8220insGATGAGGTGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGG TGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGA TGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGATACTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGG ATGGATG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739071	C C	CCACCCAC others(828): Show CCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCAC CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATC CACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCCATCC ATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCATCCACACACCAGCATCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	376	0.0027	835	c.507 others(852): Show c.507-8428_507-8427insAGATGCTGGTGTGTGGATGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGG TGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTG TGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGGTG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(828): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGA GGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGG GGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAG GGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAG AGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAG GAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGG AAGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGAGTGAGGAG GGGAAGGATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAGGAAGAGAA GGAAGGGGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAGGAGAAGGG TGAGGACAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAGAGAAGAG AGAGAAGGAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGGGAGAGAA GGGAGAGGAGGAACAGGAGGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	8	0.1250	835	c.641 others(850): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTCCCCCTCCTCCC CCCTTCTCTCCCTCCTCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCT CCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCC TCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCA CTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCC CCCTTCTCTCCCTCCTCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTA CTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCT CCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MYOM2_chr8_2040046_2150456	2086109	T T	TGTGATCT others(828): Show TGTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCA CTGTTGTGATCTCTGTGTGGCACCCCACAGTCGTGATCTCTTTGTGGCAC CCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTGTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGT GATCTCTTTGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTG TCGTGATCTCTGTGTGGCCCCCCACAGTCGTGATCTCTGTGTGGCCCCCC ACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGTGTGGCC CCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGTGT GGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCT GTGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACAGTCGTGAT CTCTTTGTGGCCCCCCACTGTCGTGATCTCTGTGTGGCCCCCCACAGTCG TGATCTCTTTGTGGCCCCCCACAGTCGTGATCTCTGTGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCACCC CACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGC CCCACTGTCGTGATCTCTGCGTGGCACCCCACAGTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0248 a0002c0016t0001g0248	1	255	0.0039	835	c.164 others(852): Show c.1644+728_1644+729insGCGTGGCACCCCACTGTCGTGATCTCTG CGTGGCCCCCCACTGTTGTGATCTCTGTGTGGCACCCCACAGTCGTGATC TCTTTGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTG TCGTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCC ACAGTCGTGATCTCTGTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCC CCCCACTGTCGTGATCTCTTTGTGGCCCCCCACAGTCGTGATCTCTTTGT GGCCCCCCACTGTCGTGATCTCTGTGTGGCCCCCCACAGTCGTGATCTCT GTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGAT CTCTGTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCG TGATCTCTGTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACT GTCGTGATCTCTGTGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCC CACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGTGTGGC CCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACAGTCGTGATCTCTGTG TGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGA TCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCACCCCACAGTCGT GATCTCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158668072	C C	CCTTACCC others(828): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTG GGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCCCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCTACCCTGTGGCCCTCCACCCGCTTACCCACTACTGGGTCCCT CCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCT GTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCTACCCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGG TCCCTCCGCCTTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCA CTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCT CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	373	0.0027	835	c.148 others(854): Show c.1480-3323_1480-3322insAGGGTGGAGGGCCACAGGGTAGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAA GGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGGTAGGT AAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGCCACAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGT GGAGGGCCACAGGGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAA GGGAGGGCGGAGGGACCCAGTAGTGGGTAAGCGGGTGGAGGGCCACAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGGGGGGCGGAGGGACCCAGGGTCGGTAAGGAAGG CGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGGTAGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NXN_chr17_794310_984776	952570	A A	AGTCAGAC others(828): Show AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGA GAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGG CAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCA AGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGG AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGA GAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGCTGGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0235 a0001c0003t0001g0235	1	193	0.0052	835	c.360 others(854): Show c.360+26748_360+26749insCCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGT GACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAG CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCA CAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGA CTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTCTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTG ACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGC CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTGTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(828): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGG GAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAG AAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAG GGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAGAAGGGGAG AGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGG GAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGG GGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAG GGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAG GGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGG GCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGA GAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAA GAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGA GAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGA GAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGA GAGAGAGGGCGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGA GAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAA GAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0014 a0014	a0014c0081 a0014c0081	a0014c0081t0001 a0014c0081t0001	a0014c0081t0001g0292 a0014c0081t0001g0292	1	24	0.0417	835	c.371 others(852): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTC TCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCGC CCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTC TCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCC TCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCC ACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTC GCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTC TCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCC TCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCC CTCTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCC CCTCCTCCCCCTCCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTC CACCTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCT CCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCTTTCTCTCCCCCTCTCTCC CCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCC CTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCC ACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTC TCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCTCCT others(828): Show TCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCC CTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTC TTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTT CTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0234 a0001c0001t0009g0234	1	228	0.0044	835	c.306 others(854): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCC TCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTC CTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCC CCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCT CTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCTCCTTCT CTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRPF31_chr19_54110754_54136713	54133882	T T	TCTCTCTC others(828): Show TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCCCTCCTCTCCACCTCCCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCTCTCTCCACCTTCCCTGTCTCCAC CTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCTCTCTCTCCCTCCT CTCTCCACCTCTCTCTCCTCCTCTCTCCACCCCTCTCTCTCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTTCCTC CCTCTCCACCTCCCTCTCTCTCTTCCTGCCTCTCCACCTCCCCTCTCTCT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCCTCCCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCACCTTCCCTGTCTCCACCTCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTTCTCTCTC CCTCCCTCTCTCCACCTCCCTCTCTCCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	219	0.0046	835	c.24 others(846): Show c.2450_*2451insCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCTCTCCACCTCCCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCCTCCCCTCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCTCTCTCCAC CTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCC CTCTCTCTCCCTCCTCTCTCCACCTCTCTCTCCTCCTCTCTCCACCCCTC TCTCTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTTCCTCCCTCTCCACCTCCCTCTCTCTCTTCCTGCCTCTCC ACCTCCCCTCTCTCTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCTCCCT CTCCACCTCCCCTCTCTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTC CTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCACCTTCCCTGTCTCCACCTCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCTTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCCTCTCCCTC C	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2170		chr19	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(828): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAG GAAGGACAGAGAGGAGGGAAGGAAGGAAGGGCAGAGACGAGGGAAGGAAG GAAGGGCAGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGG GAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGA GAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGG GGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGA GGGAAGGAAGGGGGAGAGGAGGGAAGGAAGTGGGGAGAGGAGGAAAAGAA GGGGGAGAGGAGGAAAGGAAGGTGGGAGAGGAGGAAAGGAAGGGGGGAGA GGAGGAAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGGAAA GGAAGGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGAAAAGAAGGGGG AGAGGAGGAAAGGAAGGTGGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGG AAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGAGAGGGAGGGAGGAAGG GGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGCAAGCAAGCAAAGCTGC TCAGAAGCTAACTTCAGGAAGAAGGGAGGGAAGCTAACTTCAGAAGCTAA CTTCAGGAGGGAGGGAAGGAAGGAAGGGAAGAAGGAGGGAAGGGAGGTAG GAAGGAGGGAGGGAAGGGAGGAAGGGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0024 a0002c0001t0010g0024	1	16	0.0625	835	c.88+ others(854): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGCTTCTGAGCAGCTTTGCTTGCTTGCTTCCTTCCTTCCTTCCTCCCTC CCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTCTCCC CCCTTCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCACCTTCCT TTCCTCCTCTCCCCCTTCTTTTCCTCCTCTCCCCCTTCCTTCCCTCCTCT CCCCCCTTCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCCCCTT CCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCACCTTCCTTTCCT CCTCTCCCCCTTCTTTTCCTCCTCTCCCCACTTCCTTCCCTCCTCTCCCC CTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCCTTCC CTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCC CCCTTCCTTCTCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTT CCCTCCTCTCCCCCCTTCCTTCCCTCCTCTCACCCCTTCCTTCCCTCCTC TCTGCCCTTCCTTCCTTCCCTCGTCTCTGCCCTTCCTTCCTTCCCTCCTC TCTGTCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCC CTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCT TCCTCCCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB11FIP3_chr16_420649_528011	492457	C C	CCGGGAGA others(828): Show CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAG ACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGC CCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAG GCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTT CCCGGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGGAGACCCGAGGC CGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCA GGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGC CGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	292	0.0034	835	c.126 others(854): Show c.1265+3458_1265+3459insGGGAGACCCGAGGCCGCCCAGAGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGG CCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCA GAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGT CCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGC CCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGA GGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCG TCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGA GACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCC AGGGCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
TECTA_chr11_121096243_121196490	121185845	T T	TAATGAAT others(828): Show TAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTGAATGCTTAATGAATGAATAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTCAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0307 a0003c0004t0002g0307	1	346	0.0029	835	c.600 others(854): Show c.6000-1958_6000-1957insGTGCTTAATGAGTAGGGAAAGCAGAT GTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATG AATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAG CAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGA ATGCTTAATGAATGAATAGGGAAAGCAGATGTTCAATGCTTAATGAATGA GTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGAT GTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATG AGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTCAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGA ATGAGTAGGGAAAGCAGATGTTCAATGCTGAATGAATGAGTAGGGAAAGC AGATGTTCA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TH_chr11_2158929_2176815	2161748	A A	AGACCCCT others(828): Show AGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCAG ACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCACACCCCCGTCCCCACACCCCCGTCCCCACA CCCCCGTCCCCAGACCCCTGTCCCCACACCCCCGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCAGACCCCCGTCCCCAGACCCCCGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT GTCCCCACAGCCCTGTCCCCACACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	275	0.0036	835	c.24 others(846): Show c.2484_*2485insCCGGGGACAGGGGTGTGGGGACAGGGCTGTGGGG ACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGG TCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACGGGGGTCTGGGGACGGGGGTCTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACGGGGGTGTGGGGACAGGGGTCTGGGGACGGG GGTGTGGGGACGGGGGTGTGGGGACGGGGGTGTGGGGACAGGGGTCTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGG GTCTGGGGACAGGGGTCTGGGGACAGGGGTCCGGGGGACAGGGGTCTGGG GACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGG GTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCCTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT C	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2180		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028618	G G	GAAGACCC others(828): Show GAAGACCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCAC ATACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAG ACCCCCATCACACCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCC CATCACACCATCCTGAAGACCCACACATACCCTCGTAAAGACCCCCATCA CACCGTCCTGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCATCCTAAA GACCCACACATACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCC CACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGACCCCACACA CACTCGTAAAGACCCCCGTCATACCATCCTGAAGACCCCACACACCCTCG TAAAGACCCCCATCATACCATCCTAAAGACCCCCACACACACTCGTAAAG ACCCCATCACACCGTCCTAAAGACCCCCACACACCCTCGTGAAGACCCCA TCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACC GTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAA AGACCCACACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCC CACATACCCTCGTAAAGACCCCATCACACCATCCTA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0139 a0001c0015t0001g0139	1	172	0.0058	835	c.225 others(854): Show c.2251+1811_2251+1812insTAGGATGGTGTGATGGGGTCTTTACG AGGGTATGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGT GTGTGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGG TCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAG GACGGTGTGATGGGGTCTTCACGAGGGTGTGTGGGGGTCTTTAGGACGGT GTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGATG GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTATGACGGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTCTACG AGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTA TGTGTGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTT CAGGACGGTGTGATGGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGA TGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTG TGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTT ACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTCTACGAGTGTGTGT GGGGGTCTT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028832	G G	GTCCTGAA others(828): Show GTCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATCACACCGTCCTG AAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCCACATACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCAC ATACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACCC TCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAA GACCCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGACCCC CATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCACACACACTCGTAAAGACCCCCATCACACCGTC CTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCAC ACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAA GACCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCC ATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATCACA CCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCATCC TGAAGACCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGA CCCCCACATACCCTCGTAAAGACCCCCATCACACCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0002 a0016c0022t0002	a0016c0022t0002g0117 a0016c0022t0002g0117	1	194	0.0052	835	c.225 others(854): Show c.2251+1597_2251+1598insTGGTGTGATGGGGGTCTTTACGAGGG TATGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGT GGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGGGGGTC TTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGG ATGGTGTGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTG TGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGG GGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCT TCAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGA CGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGGTGT GATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTT ACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG GGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTG TGGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGG TCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(828): Show ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACATACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCACACACCCCACACACCACACACACAC CACACACACATCACATACCACACACAAACCACACACCCTACACGCACCAC ACACCCTACACGCACCACACACCCCACACACACCACACACCCGACACACG CCACACACACACCACACACCCCACGCACACATCACATACCACACACAAAC CACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	35	0.0286	835	c.35 others(854): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACATACACA CCACACACACATCACATACCACACACAAACCACACACCCCCACACACCCC ACACACCCCACACACACCACACACCCCACACACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCCACACACCCCACACAC CACACACACACCACACACACATCACATACCACACACAAACCACACACCCT ACACGCACCACACACCCTACACGCACCACACACCCCACACACACCACACA CCCGACACACGCCACACACACACCACACACCCCACGCACACATCACATAC CACACACAAACCACACACCCTACACACCCCACACACCCCACACACACCAC ACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(828): Show TAATAATATAATATATATTATTATAATTATATATAATAATATAATATATA TTATTATAATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAATATAATATATATTATTATATATTATTATATATAATAATATA TATTATATTATTATATATAATTATATATAATAATATATATTATATTATTA TATATAATTATATATAATAATATAATATATATTATTATATATAATTATAT ATAATAATATAATATATATTATTATATATAATTATATATAATAATATAAT ATATATTATTATATATAATAATAATATATATATATTATTATATATAATTA TATATAATAATATAATATATATTATTATATATAATTATATATAATAATAT AAATATATTATTATATATTATTATATATAATAATATAATATATATTATAT ATTATTATATATAATAATATAATATATATTATATATTATTATATATAATA ATATAATATATATTATTATATATTATTATATATAATAATATAATATATAT TATTATATATAATAATATAATATATATTATTATATATTATTATATATAAT AATATAATATATATTATTATATATAATAATATAATATATATTATTATATA TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATAATATAATATATATTATTATATATTATTATAT ATAATAATATAATATATATTATTATATATTATTATATATAATAATATAAT ATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	83	0.0120	835	c.392 others(852): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATTATTATATATAATAATATATATTATATTATTATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATATTATATTATTATATATAATAATATATAATAATATA TATTATATTATTATATATAATAATATATAATATATATTATATTATTATAT ATAATAATATATAATATATATTATATTATTATATATAATAATATATAATA ATATATTTATATTATTATATATAATTATATATAATAATATATATTATATT ATTATATATAATTATATATAATAATATATATATATTATTATTATATATAA TAATATATATTATATTATTATATATAATTATATATAATAATATATATTAT ATTATTATATATAATTATATATAATAATATATATTATATTATTATATATA ATTATATATAATAATATAATATATATTATTATATATAATTATATATAATA ATATAATATATATTATTATATATAATAATATATAATAATATATATTATAT TATTATATATAATAATATATAATAATATATATTATATTATTATATATAAT TATAATAATATATATTATATTATTATATATAATTATAATAATATATATTA TATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(828): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCC CCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCC CCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0110	1	100	0.0100	835	c.-10 others(852): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCT CTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCC CCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCT TTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZFPM1_chr16_88448280_88542031	88461004	G G	GGACCGAG others(828): Show GGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGG GAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGA GGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCT GGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGG GGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCC AGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGA CCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTG GTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGG AGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGC AGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGG GATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATG ACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGA GGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGG GGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGAGG ACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTG AGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAG ACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0082 a0002c0002t0005g0082	1	218	0.0046	835	c.40+ others(850): Show c.40+7336_40+7337insCGGGGCGGGAGGCCTGGTGATGACCGAGGG GCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGT GAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGC GGGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACC GAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGG TGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCC TGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCG GGAGGCCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCG AGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGA CCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGA GGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGAC CTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGC GGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGA TGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGC CTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAA GGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATG GGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGACCG AGGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(828): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC AAGTATATATATATACTTGTATATATATATACAAGTATATATATATACTT GTATACATATATACTATATATATACGTATATACACGTATATACGTATATA TATGTATATATACGTATATACATGTATATATACGTATATACACGTATATA CGTATATATACACATATATACATGTATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATATA CGTATATATACACATATATACATGTATATATATACGTATATATACACATA TATACATGTATATATACATGTATATATACACATATATACATGCGTATATA TATACGTATATATACATGTATATATATACGTATATATACACATATATACA TGTATATATACGTATATATACACATATATACATGTATATATATACGTATA TATACACATATATACATGTATATATATACGTATATATACACATATATACA TGTATATATATACGTATATATACACATATATACATGTATATATATACGTA TATATACACATATATACATGTATATATATACGTATATATACACATATATA CATGTATATATACATGTATATATACACATATATACATGCGTATATATATA CGTATGTATATATGTATATATACGTATATACATGTATATATATATACGTA TATATACATATATACGTATATATATATACGTATATATACATATATATACA TGTATATATGTGTGTATATATATACGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0256 a0002c0002t0003g0256	1	183	0.0055	835	c.-42 others(846): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACAAGTATATATATATACTTGTATATATATATACAAG TATATATATATACTTGTATACATATATACTATATATATACGTATATACAC GTATATACGTATATATATGTATATATACGTATATACATGTATATATACGT ATATACACGTATATACGTATATATACACATATATACATGTATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATATACGTATATATACACATATATACATGTATATATATAC GTATATATACACATATATACATGTATATATACATGTATATATACACATAT ATACATGCGTATATATATACGTATATATACATGTATATATATACGTATAT ATACACATATATACATGTATATATACGTATATATACACATATATACATGT ATATATATACGTATATATACACATATATACATGTATATATATACGTATAT ATACACATATATACATGTATATATATACGTATATATACACATATATACAT GTATATATATACGTATATATACACATATATACATGTATATATATACGTAT ATATACACATATATACATGTATATATACATGTATATATACACATATATAC ATGCGTATATATATACGTATGTATATATGTATATATACGTATATACATGT ATATATATATACGTATATATACATATATACGTATATATATATACGTATAT ATACATATATATACATGTATATATGTGTGTATATATATACGTATATATAC A	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(829): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAG CAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0099 a0001c0015t0001g0099	1	145	0.0069	836	c.298 others(853): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCT GTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCC CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(829): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACAC AGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAG CAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02738.hp1 HG01981.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0216 a0001c0002t0001g0107 a0001c0002t0001g0216	2	146	0.0137	836	c.298 others(853): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCC GTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCT GCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(829): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACT ACCCATCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACC CACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCATCA CCCGCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCC CACACTACCCATCCCCATCACCCCCACACTACCCACCCCCATCACCCCAC ACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTAC CCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCA TCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCAC CCCCCACACTACCCACCCCCATCACCCTCACTACCCATCACCCGCACACT ACCCACCCCATCACCCGCACACTACCCACCCCATCACCCGCACACTACCC AGGCCCATCACCCCGCTACCCACCCCATCACCCCCACACTACCCACCCCA TCACCCCCACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCATCAC CCCCCACGCCACCACCCCATCACCCCCACGCCGCCCACCCCCATCACCCC CCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCA CGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0079 a0003c0015t0002g0079	1	50	0.0200	836	c.147 others(853): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACTA CCCATCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCC ACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCATCAC CCGCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCC ACACTACCCATCCCCATCACCCCCACACTACCCACCCCCATCACCCCACA CTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACC CATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACC CCCCACACTACCCACCCCCATCACCCTCACTACCCATCACCCGCACACTA CCCACCCCATCACCCGCACACTACCCACCCCATCACCCGCACACTACCCA GGCCCATCACCCCGCTACCCACCCCATCACCCCCACACTACCCACCCCAT CACCCCCACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCATCACC CCCCACGCCACCACCCCATCACCCCCACGCCGCCCACCCCCATCACCCCC CACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCAC GCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACACTA CCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ASAP2_chr2_9201812_9410678	9406031	G G	GTGTCACT others(829): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAAT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0180 a0002c0005t0001g0180	1	122	0.0082	836	c.27 others(847): Show c.2704_*2705insTGTCACTGAGTGGACCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT AGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTG AGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTC AGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAG GCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTT CCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT AGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTG TT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		354		chr2	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(829): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAG AGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGG GCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGC AGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	223	0.0045	836	c.36 others(847): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCT CCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAG GCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGC AGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCC TGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGA GCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCC CCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCG GGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCG AC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(829): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	223	0.0045	836	c.36 others(847): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG AC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
C10orf67_chr10_23197696_23349797	23331550	G G	GGAAGGGA others(829): Show GGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAA AAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGG GACGGGAAAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAACCAGGACAGGAACCGGGACAGGAACCGGGAAGGGAAGGGA TGGGAACCGATGGGAACCGGGATGGCAACCAGGAAGGGAAGGGACCGGGA CGGGAAGGGAAGGAAACCGGGACGGCAACAGAGACAGGAACCGGGAAGGG AAAAGAAGGGAAGAGAACCGGGAAGGGAAGGGAACCGGGACAGGAACCGG GAAGGGAAGGGAAGAGAACAGGGAAGGGAGGGTAGGGGAGGGAAACCGGG AAGGAAGAGGAAGGGGAGGGGAGACCGGGACGGGAACTGGGACGGAAGGG TAGGGAACCGGGCGGGAACCGGGACGGGAGGGGAAGGGAATGGGGACGAG AAACGGGACGGGAACCAGGACAGGAACCAGAACGGAAACAGGGAAGGGAA GGGAAGGGAACAGGGACAGGAATCGGGAAGGGAACCGGGACAGGAACCGG AAAGGGAAGGGAACCAGGAAAGGAAAGGAAGGCAAGCGGGACGGGAGCCG GGAAGGCAAGAGAAGGGAACCGGGAAGAGTAAGGAGGAAAACCGGGACGG GAACAGGACGGGAACCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACG GGAACCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGA AGGGCAGGGAACCGGCACAGGAAGGAAAGGGAACCGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	316	0.0032	836	c.327 others(853): Show c.327+1511_327+1512insTCGGTTCCCTTTCCTTCCTGTGCCGGTT CCCTGCCCTTCCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTT CCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCC GTCCTGTTCCCGTCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTC TTGCCTTCCCGGCTCCCGTCCCGCTTGCCTTCCTTTCCTTTCCTGGTTCC CTTCCCTTTCCGGTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGT TCCCTTCCCTTCCCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCC GTCCCGTTTCTCGTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCC GGTTCCCTACCCTTCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTC CTCTTCCTTCCCGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCC CTTCCCTTCCCGGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTC CCTTCTTTTCCCTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTT CCCTTCCCGTCCCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCAT CGGTTCCCATCCCTTCCCTTCCCGGTTCCTGTCCCGGTTCCTGTCCTGGT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTC CCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGG TTCCCTTC	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(829): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAG CAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18971.hp1 HG00621.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	236	0.0085	836	c.-22 others(847): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTT CTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(829): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACAC AGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAG CAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02738.hp2 HG01981.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0002 a0001c0001t0001g0007	2	236	0.0085	836	c.-22 others(847): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCT GCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTG TGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC GCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(829): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCAT AGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCAT AGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	103	0.0097	836	c.300 others(853): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGT AGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCBE1_chr18_59425939_59702423	59473782	C C	CCCCCACT others(829): Show CCCCCACTACTCACCTTCCAACCTTCCCACTATTTCCTCCCCACTACTCA TCATCCAACCCTCCCACTATTTCCTCCCCTGCTACTCACCTTCCAACCCT ATTTCCTCCCCCACTACTCACCTTCCAACCCTATTTCCTCCCCCACTACT CACCTTCCAACCCTCCCACTATTTCCTCCCCCCACTACTCACCTTCCAAC CTTCCCACTATTTCCCCCCTACTACTCACCTTCCAACCCTCCCACTATTT CCCCCCGACTACTCACCTTCCAACCTTCCCACTATTTCCTCCCCCTACTA CTCACCTTCCAACCCTCCCACTATTTCCTCCCCCACTACTCACCTTCCAA CCCTCCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTA TTTCCCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACT ACTCACCATCCAACCCTTCCACTATTTCCCCCCCACTACTCACCATCCAA CCCTCCCACTATGTCCTCTCCCACTACTCACCTTCCAACCCTCCTATTCC CCCCACTACTACTCACCATCCAACCCTCCCAGTACTCACCTTCCAACCCT CCCACTATCCCCCCCTACTACTCACCTTCCAACCCTTCCACTATTTCCCC ACTACTACTCACCTTCCAACCCTCCCACTATTTCCTCCCTCCAACTACTC ACCTTCCAACCCTCCTACTATTCCCCCGCTACTACTCACCTTCCAACCCT CCCACTATTCCCCCACTACTGCCCACCTTCCAACCCTCCCACTATTCCCC CGCTACTACCTACCTTCCAACCCTCCCACTATTTCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0097 a0001c0001t0019g0097	1	240	0.0042	836	c.266 others(853): Show c.266-4176_266-4175insAGGAAATAGTGGGAGGGTTGGAAGGTAG GTAGTAGCGGGGGAATAGTGGGAGGGTTGGAAGGTGGGCAGTAGTGGGGG AATAGTGGGAGGGTTGGAAGGTGAGTAGTAGCGGGGGAATAGTAGGAGGG TTGGAAGGTGAGTAGTTGGAGGGAGGAAATAGTGGGAGGGTTGGAAGGTG AGTAGTAGTGGGGAAATAGTGGAAGGGTTGGAAGGTGAGTAGTAGGGGGG GATAGTGGGAGGGTTGGAAGGTGAGTACTGGGAGGGTTGGATGGTGAGTA GTAGTGGGGGGAATAGGAGGGTTGGAAGGTGAGTAGTGGGAGAGGACATA GTGGGAGGGTTGGATGGTGAGTAGTGGGGGGGAAATAGTGGAAGGGTTGG ATGGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTA GGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGTGGGAGGGTTG GAAGGTGAGTAGTAGGGGGAGGAAATAGTGGGAAGGTTGGAAGGTGAGTA GTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAAT AGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGT TGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGTGGG GGAGGAAATAGGGTTGGAAGGTGAGTAGCAGGGGAGGAAATAGTGGGAGG GTTGGATGATGAGTAGTGGGGAGGAAATAGTGGGAAGGTTGGAAGGTGAG TAGTGGGG	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(829): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCTTCCAACCTTCCCACTATTTCCTCCCCCTACTACTCACCTTCCAACC CTCCCACTATTTCCTCCCCCACTACTCACCTTCCAACCCTCCCACTATTT CCTCCCCCACTACTCACCTTCCAACCCTCCCACTATTTCCTCCCCCCACT ACTCACCTTCCAACCTTCCCACTATTTCCCCCCTACTACTCACCTTCCAA CCCTCCCACTATTTCCCCCCGACTACTCACCATCCAACCCTTCCACTATT TCCCCCCCACTACTCACCATCCAACCCTCCCACTATGTCCTCTCCCACTA CTCACCTTCCAACCCTCCTATTCCCCCCACTACTACTCACCATCCAACCC TCCCAGTACTCACCTTCCAACCCTCCCACTATTCCCCCCTACTACTCACC TTCCAACCCTTCCACTATTTCCCCACTACTACTCACCTTCCAACCCTCCC ACTATTTCCTCCCTCCAACTACTCACCTTCCAACCCTCCTACTATTCCCC CGCTACTACTCACCTTCCAACCCTCCCACTATTCCCCCACTACTGCCCAC CTTCCAACCCTCCCACTATTCCCCCGCTACTACCTACCTTCCAACCCTCC CACTATTTCCTCCCACCACTCACCTTCCAACCCTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp2 HG00738.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0161 a0001c0001t0002g0038 a0001c0001t0002g0161	2	3	0.6667	836	c.266 others(853): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTG GAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAG TGGGGGGGAAATAGTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGG AAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAG TGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAA TAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGAGGAAATAGTGGGAAGG TTGGAAGGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGT AGTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGA AATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGA AGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGCAGGGGAG GAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(829): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTT TTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0055 a0001c0009t0055	a0001c0009t0055g0303 a0001c0009t0055g0303	1	38	0.0263	836	c.248 others(853): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA GTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(829): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTT TTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0255	1	38	0.0263	836	c.248 others(853): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA GTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP61_chr20_20047532_20365698	20357454	G G	GAGGGGAG others(829): Show GAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGAT GGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTC ATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTA GTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGT GAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGG TCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAG GGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGG GGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0055 a0005c0008t0001g0055	1	198	0.0051	836	c.351 others(855): Show c.3514-2756_3514-2755insAGGGGAGGTGGTCACAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCAC ACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGAGGAGGT GGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACAC TGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACT GCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAG GTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTG TGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACT GAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAG GTAGTCACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGTGG others(829): Show GGGAGTGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAG GGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGA GGGGAGCTGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGG GAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGAGC AGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAG GGGAGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGAGGAGGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGG AGCTGGGGAGGAGGAGGAGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAG GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGA GGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0036 a0001c0001t0012g0036	1	11	0.0909	836	c.-26 others(845): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC CCTGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCTCCTCCTCCTCCCCAGC TCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCCTCCT CCCCCCTCCCCTGCTCCCCCTCCTCCCCTCCCCTGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCTCC CCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCAGCTCCC CTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCC TCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTC CCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCACTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(829): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCC TCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTC TTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCT CTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTC CTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0166 a0001c0003t0001g0166	1	2	0.5000	836	c.162 others(857): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTT CCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTC TTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTT CCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCC CCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNTNAP4_chr16_76272401_76565757	76359477	A A	ACTTCTTT others(829): Show ACTTCTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTAC ATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGG TGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATG CTATCCCTCCCCCCTCCCCCCACCCCACCACAGTCCCCAGAGTGTGATAT TCCCCTTCCTGTGGCCATGTGATCTCATTGTTCAATTCCCACCTATGAGT GAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAAT GATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCAT TTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTA ATCCAGTCTATCATTGTTGGGCATTTGGGTTGGTTCCAAGTCTTTGCTAT TGTGAATAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGC ATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCA AATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCA CAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTA TTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATT GCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCAT TTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTG CATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp1 HG03540.hp2 HG01884.hp1 HG03209.hp1 HG03540.hp2	a0002 a0003 a0002 a0003	a0002c0012 a0003c0003 a0003c0006 a0002c0012 a0003c0003 a0003c0006	a0002c0012t0002 a0003c0003t0027 a0003c0006t0006 a0002c0012t0002 a0003c0003t0027 a0003c0006t0006	a0002c0012t0002g0048 a0003c0003t0027g0237 a0003c0006t0006g0205 a0002c0012t0002g0048 a0003c0003t0027g0237 a0003c0006t0006g0205	3	272	0.0110	836	c.390 others(853): Show c.390+3971_390+3972insTTTTTTTTTTTTTTTTTTTTATTATACT CTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTA GGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCCACCCCACCACAGT CCCCAGAGTGTGATATTCCCCTTCCTGTGGCCATGTGATCTCATTGTTCA ATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCG ATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAG GATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATAT GTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCATTTGGGTTGGT TCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAAACATACGTGTGCAT GTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAA TGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATC GCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAG TGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCC TGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAG TGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTC ATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCAT GTCCTTCT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(829): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATC CATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCAT CCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCATCCAT CTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCATCCA TCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCC ATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCCATCC ATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATCCATC CATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCC ATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCAT CCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCAT TCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0198 a0001c0009t0001g0198	1	3	0.3333	836	c.110 others(853): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCAC CCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCA TCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCA TCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTC ACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATC CATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCAC CATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATT CATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCAT CCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCA TCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCA TGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATC CATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(829): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATC CATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCAT CCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCATCCAT CTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCATCCA TCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCC ATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCCATCC ATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATCCATC CATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCC ATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCAT CCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCAT TCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03688.hp2 HG03669.hp1 HG03688.hp2	a0001 a0001	a0001c0023 a0001c0028 a0001c0023 a0001c0028	a0001c0023t0001 a0001c0028t0004 a0001c0023t0001 a0001c0028t0004	a0001c0023t0001g0014 a0001c0028t0004g0213 a0001c0023t0001g0014 a0001c0028t0004g0213	2	4	0.5000	836	c.110 others(853): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCACCATCCATTCAC CCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCA TCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCA TCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTC ACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATC CATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCAC CATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATT CATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCAT CCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCA TCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCA TGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATC CATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(829): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATC CATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCAT CCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCATCCAT CTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCATCCA TCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCC ATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCCATCC ATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATCCATC CATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCC ATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCAT CCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCAT TCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03579.hp1 HG00140.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0042 a0001c0003t0044 a0001c0002t0042 a0001c0003t0044	a0001c0002t0042g0190 a0001c0003t0044g0185 a0001c0002t0042g0190 a0001c0003t0044g0185	2	4	0.5000	836	c.110 others(853): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCAT TCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCA TCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCA TCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTC ACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATC CATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCAC CATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATT CATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCAT CCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCA TCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCA TGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATC CATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(829): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATC CATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCA TCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCC ATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCC ATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATC CATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCC ATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCAT CCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCAT TCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01884.hp1 others(13): Show HG01167.hp2 HG01169.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp2 NA18522.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0024 a0001c0025 a0001c0026 a0001c0045	a0001c0001t0012 a0001c0003t0004 a0001c0003t0008 others(12): Show a0001c0001t0012 a0001c0003t0004 a0001c0003t0008 a0001c0003t0015 a0001c0004t0018 a0001c0005t0001 a0001c0005t0006 a0001c0006t0007 a0001c0007t0017 a0001c0007t0023 a0001c0009t0001 a0001c0024t0017 a0001c0025t0008 a0001c0026t0006 a0001c0045t0004	a0001c0001t0012g0242 a0001c0003t0004g0266 a0001c0003t0008g0186 others(13): Show a0001c0001t0012g0242 a0001c0003t0004g0266 a0001c0003t0008g0186 a0001c0003t0015g0189 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0005t0001g0107 a0001c0005t0006g0039 a0001c0006t0007g0103 a0001c0007t0017g0241 a0001c0007t0023g0232 a0001c0009t0001g0106 a0001c0024t0017g0180 a0001c0025t0008g0202 a0001c0026t0006g0101 a0001c0045t0004g0104	16	18	0.8889	836	c.110 others(853): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCAT TCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCA TCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCC ATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATT CATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCAT CCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCC CATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCAT CCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCA TCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCA TGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATC CATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(829): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATC CATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCA TCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCC ATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCC ATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATTCATTCATCCATCCATCCATCCATCCATCCATC CATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCC ATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCAT CCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCAT TCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0268 a0001c0015t0001g0268	1	3	0.3333	836	c.110 others(853): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCAT TCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCA TCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCC ATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATT CATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCAT CCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCC CATTCATCCATCCATCCACCATCCATTCATTCATCCATCCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCAT CCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCA TCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCA TGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATC CATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(829): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAG GGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGAAGGAGGGAGGG AGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAG GGGAGGACAGAGGGAGGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGG AGGGAGGGGAGGACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAG GGAGGGATGGAGGGAGGGATGGAAGGATGGAGGGAGGAAAGAATGGAGGG AGGGAGGGAAGAATGGAGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAG GGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGAAGAATGGAGGG AAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAAGTAAGAATGGAG GGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAGGG AGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGGGAAGAGT GGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGAAGAGTGG AAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGGAAGAAT GGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAAGACTGG AGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGAATGGAG GGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0035 a0035	a0035c0023 a0035c0023	a0035c0023t0001 a0035c0023t0001	a0035c0023t0001g0052 a0035c0023t0001g0052	1	2	0.5000	836	c.415 others(857): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACTTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCATTCTTCCCTCCCTCCCTCCCTTCCTCCATT CTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTCCA TTCTTCCCTCCCTCCCTCCATTCTTTCCTCCCTCCATCCTTCCATCCCTC CCTCCATCCCTCCCTCCTTCTAGCCTCGCCTCCCTCCTTCCCTCCTTCCG TCCTCCCCTCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCCTC CCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCC TCTGTCCTCCCCTCCCTCCCTCCTTCCTCCCCTCCCTCCCTCCTTCCATC CTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCT TCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTC CCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CTU2_chr16_88701503_88720396	88713038	G G	GCCCCTGA others(829): Show GCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCCCACTC ATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0152 a0003c0004t0004g0152	1	408	0.0025	836	c.737 others(851): Show c.737+148_737+149insTTCCCCGGGCCCTGACCCCCACTCATGCCC CTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCCC ACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL4A_chr13_113204613_113272108	113263139	G G	GCTGATGG others(829): Show GCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATG GCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATG TCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATC TGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCG CTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATAC GTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCT TGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGAT GGCAGATGTCGGGTCTGCCTCGCTTATACGTGTCTGCCTCGCTTATACGT GCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTG CTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGG CAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGT CGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCT GCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGC TTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACG TGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTT GCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATG GCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	67	0.0149	836	c.218 others(853): Show c.2185-306_2185-305insGCTGATGGCAGATGTCGGGTCTGCCTCG CTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATAC GTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCT TGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGAT GGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGAT GTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGAT CTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTC GCTTATACGTGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGT CGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCT GCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGC TTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACG TGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTT GCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATG GCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATG TCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTC TGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCG CTTATACGTGCCCTTACTGATGGCAGATGTCGGATCTGCCTCGCTTATAC GTGCCCTT	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DCDC2C_chr2_3698575_3853008	3725599	A A	AGGTGGAT others(829): Show AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC TGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0276 a0001c0001t0004g0276	1	190	0.0053	836	c.340 others(853): Show c.340-1395_340-1394insCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCG GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGA GAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725599	A A	AGGTGGAT others(829): Show AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC TGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0321 a0001c0001t0005g0321	1	190	0.0053	836	c.340 others(853): Show c.340-1395_340-1394insCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCG GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGA GAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725599	A A	AGGTGGAT others(829): Show AGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGGAGACGAG CAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC TGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0283 a0001c0001t0006g0283	1	190	0.0053	836	c.340 others(853): Show c.340-1395_340-1394insCGGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC CGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCG GAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGA GAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar

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